A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv291n54



Internal ID20133715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59584189..59585926hg38UCSC Ensembl
chr1:60049861..60051598hg19UCSC Ensembl
chr1:59822449..59824186hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381738
hg191738
hg181738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546351, nsv546354
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv291n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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